Because Duchenne is rare,1 healthcare professionals may encounter few cases, if any, during their careers. The rarity of the disease combined with the non-specific early symptoms means diagnosis can be a challenge and may result in diagnostic delay.2–4
Taking appropriate action when concerns first arise may prevent years of uncertainty and stress for families whilst waiting for a diagnosis.3,6–8
Delayed diagnosis of Duchenne muscular dystrophy (DMD) in a 6-year-old boy presenting with severe global developmental delay
The following case study is based on the case report published in Essex C & Roper H. BMJ. 2000;323:37–38 but the images are for illustrative purposes only.9
Prompt intervention is critical to help delay disease progression and help preserve muscle function for as long as possible.
How can you help? If you see signs and symptoms of DMD, order a CK test.
Click here to check the red flag signs and symptoms. If you suspect DMD, perform a CK test.
(excluding UK and Ireland)
Not a healthcare professional but want to know more? Visit Duchenne and You for more information on signs and symptoms of Duchenne, diagnosis and support following a Duchenne diagnosis
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